The genomics revolution is happening now and will affect everyone.
My first goal is to provide information to general public about advances in genomics that can impact you. If you have questions, please feel free to ask. If I don't know the answers, I have plenty of connections I can rely on to get you the information you need.
My second goal is to post articles on recent scientific developments in the biotechnology and genomics research space, that would interest like minded scientists and other biotechnology professionals.

Cancer Research

01/01/2010

During the summer of 2009, I came across a fascinating
Genetic Study that I decided to participate in Part 1 of this blog will
describe the study and some of its features I particularly liked.In Part 2, I will share some of my personal
experiences in participating in the study.

The Coriell Personalized Medicine Collaborative (CPMC) is a
research study with a goal of understanding if personalized genetic information
can be used to improve health outcomes.

Participants are asked to contribute a Saliva Sample (by
spitting a lot in a plastic tube) which is then screened for genetic variants,
which can be attributable to common diseases and predict responses to certain
medications.

The participants are also asked to complete an online
profile of themselves in which they are asked a series of questions on their
lifestyle, family history, current health and medications used.This information in combination with the test
is used to generate a personalized genetic report which is viewable by the
participant online, once the results are available.That’s it – it’s free and it’s really simple.

I wanted to highlight a few of the features of the study
that I particularly liked

The complex diseases/that
are reported on are certain types of cancers, diabetes, heart disease and
other multi-factorial conditions.The key thing that they have in common is that the risk of
developing them can all be reduced by changes in behavior , lifestyle or
medical management– only conditions which are potentially “actionable’ are
reported.

Apart from multi-factorial
conditions, samples are also screened for genetic variants which can
influence how individuals metabolize certain prescription drugs, something
that’s definitely useful to know when making treatment decisions.

One of my favorite things about the CPMC
is the lengths they go to ensure that each participant has the opportunity
for a great education in genetics, with up to date easily digestible
information. The website gives the user a crash course in Genetics 101,
the principles of heredity and a discussion on how genomics knowledge may be
useful in making medical decisions.The sections of the website dedicated to genetic education are
excellent at dispelling a number of myths that the public believe about
genetics and genomics.One example is
the distinctions made between sporadic cancers, familial cancers and hereditary
ones.When we say “cancer is
genetic” many equate that only with hereditary genetics and may have
fatalistic misconceptions when learning that they have inherited a ‘cancer
gene.’ The explanations are simple,
using accessible language and diagrams.

Once the results are made
available on the website (approx 6 weeks after sample submission)
participants are notified by email and then they have several choices.

To learn about the
condition and what the risks actually mean.

To view the results with a very easy to
understand interpretation of what they mean

The choice NOT to view
each or any of the individual results

To get genetic counseling,
in person or over the phone before or after viewing the results.This is a very key part of the study
that I believe, differentiates it from some of the commercial ‘Direct to
consumer’(DTC) genetic testing companies. It’s particularly important
when you consider the ‘fear factor’ that the public currently have with
respect to genetic information, particularly when we are talking about
complex conditions and disease..

The study is ongoing over
many years.Genetic research is
constant and every day new genes, are discovered and associated with
different diseases.As this happens
this information will be made available to the participants provided they
are ‘actionable’ and the participants continue to annually update their
online medical and lifestyle profile. I believe that this continuous engagement
of the participants will also play a major role in improving the
scientific literacy of the individuals with regards to personalized genomics.

Participants have the
option to release their anonymous data to non profit or not for profit
organizations to use as part of their studies into genetic disease. Another great feature of the study, not only can participants gain more
knowledge of their own genomes, but they can also make an active
contribution to genetic and disease research which will ultimately benefit
future generations.

The collaborative nature
of this study is again a key differentiator from other commercial DTC
entities.This study brings
together thought leading scientific researchers, genetic counselors, IT specialists,
hospitals, clinicians, members of the public and many more groups who will
all play a key role in advancing personalized genomics initiatives.

The ‘online ‘nature of the
whole process is a view to the future of what Medicine 2.0 could look
like.A web based interface that
enables patients to learn about medical conditions in general, get test
results back electronically, learn specifics about their conditions and
how to manage them, create and follow treatment plans, interact with their
medical practitioners and schedule appointments for treatments without
ever leaving their homes.

Once I heard about the CPMC and researched it a little, it didn’t
take me long to decide that I wanted to participate. In Part 2, I will share
with you my own experiences of participating in this very exciting study.

I would love to hear from others who decided to take a
Personalized Genomics/Medicine test.

12/26/2009

This article has been updated to include statistics from Genomic Health characterizing Oncotype DX's reimbursement in the node-positive and node-negative population. The article has been changed to include the company's estimate on the patient population receiving an "intermediate" recurrence score from Oncotype DX.